Paradoxical embolism through an atrial septal defect (ASD) is a rare but important cause of acute coronary syndrome (ACS) in patients without conventional cardiovascular risk factors. We report the case of a 40-year-old male with no history of hypertension, diabetes, smoking, dyslipidemia, or family history of premature coronary artery disease who presented with acute chest pain and ischemic electrocardiographic changes. Basic thrombophilia profile screening was nonaffirmative. Troponin-T testing using a point-of-care and quantitative assay was positive. Coronary angiography revealed angiographically normal epicardial coronary arteries. Transthoracic and transoesophageal echocardiography demonstrated a large ostium secundum ASD measuring 22 mm × 24 mm, with a prominent Eustachian valve and significant right-to-left shunting on contrast study, accentuated during the Valsalva maneuver. The patient underwent successful transcatheter ASD closure with complete abolition of shunting. This case highlights paradoxical coronary embolism as a potential mechanism of ACS in young, low-risk individuals and underscores the importance of evaluating intracardiac shunts in patients presenting with ACS and nonobstructive coronaries.
Coarctation of the aorta (CoA) is the 6th most common congenital cardiac defect, characterized by a wide spectrum of aortic narrowing that ranges from a discrete constriction to diffuse tubular hypoplasia. This defect leads to obstruction of systemic blood flow and secondary hypertension. Although multiple surgical and endovascular techniques have been developed for the correction of CoA, each procedure has its merit and demerits. Despite their clinical success, these procedures are associated with several limitations. To address some of the documented limitations, we have developed a novel surgical technique specifically designed for pediatric CoA repair. This innovative approach minimizes prosthetic use, preserves native aortic tissue, and allows physiological adaptation with growth. Early clinical experience has demonstrated favorable results. Our innovative methods for the repair of CoA may improve outcomes in children with CoA.
Gorlin-Goltz syndrome (GGS) is a rare hereditary autosomal dominant condition. Cardiac fibromas are one of the clinical manifestations of this disease. The presence of these benign heart tumors may lead to life-threatening complications. We present the case of a 5-year-old girl with GGS and a large cardiac fibroma who had ventricular fibrillation during respiratory tract infection. Several options of treatment were considered in the secondary prevention of cardiac arrest. A partial resection of the tumor was performed to prevent recurrence of malignant arrhythmia. The loop recorder implanted postoperatively didn’t record any episodes of sustained ventricular arrhythmia in a 9-month follow-up. In conclusion, cardiac fibromas, especially with the presence of infections, increase risk of ventricular arrhythmias. Partial resection of tumor can be effective and relatively safe in the secondary prevention of ventricular fibrillation in patients with large cardiac fibromas with GGS.
Coarctation of the aorta (CoA) persisting into adulthood is uncommon and may be complicated by hypertension and aortic pathology. Aortic dissection occurring distal to a coarctation segment in the presence of advanced coronary artery disease (CAD) is not uncommon, but its description in the literature - especially the management - is rarely reported. A 46-year-old male with no prior symptoms or history of comorbid illness presented with acute, tearing chest and back pain. Echocardiography revealed a CoA. Further evaluation with computed tomography angiography demonstrated a Stanford type B aortic dissection distal to the coarcted segment, and coronary angiography showed triple-vessel CAD. He underwent an open surgical repair with resection of the coarctation and Dacron graft replacement, along with triple coronary artery bypass grafting. Recovery was uneventful, and follow-up imaging confirmed durable repair and patent grafts. Vigilance for aortic complications in adults with uncorrected or residual coarctation is essential. Simultaneous repair of coarctation-associated dissection and coronary revascularization is feasible with meticulous planning.
Middle aortic syndrome is a rare cause of renovascular hypertension in infants. We report a 21-month-old boy weighing 11 kg who presented with severe systemic hypertension (205/117 mmHg) and left ventricular (LV) dysfunction due to diffuse hypoplasia of the thoracoabdominal aorta. Echocardiography and computed tomography angiography showed two coarctation segments involving the superior mesenteric and renal arteries without inflammatory signs. After medical stabilization, acute pulmonary edema and cardiogenic shock developed. A hybrid transabdominal approach with sequential covered-stent implantation achieved favorable recovery, with normalization of blood pressure and improvement in LV function.
Coexisting transposition of the great arteries (d-TGA) and total anomalous pulmonary venous connection (TAPVC) is a rare combination, with the infracardiac variety being more rare. So far, only a few cases are described in the literature with combined infracardiac TAPVC and d-TGA. We present a 4-month-old girl having TGA and obstructed infracardiac TAPVC with early left ventricle mass regression. She underwent successful complete surgical anatomical correction of this rare entity without postoperative mechanical circulatory support uneventfully. Simultaneous complete anatomical correction of TAPVC and d-TGA with arterial switch operation and common chamber to left atrium anastomosis can be done with excellent outcome even in late presentation with features of obstruction.
Patent ductus venosus (PDV) is a rare intrahepatic congenital portosystemic shunt that can result in hepatic encephalopathy and hepatopulmonary syndrome due to diversion of portal blood away from hepatic metabolism. Although typically diagnosed in infancy, PDV may rarely remain undetected until adolescence. Management of late presenters is challenging, as abrupt closure of large shunts may precipitate portal hypertension, and coil embolization carries a higher risk of systemic migration. We report a 16-year-old boy presenting with unexplained hypoxemia (SpO₂ 84% on room air), digital clubbing, and hyperammonemia. Bubble contrast echocardiography demonstrated an extracardiac right-to-left shunt, while abdominal imaging confirmed a large PDV with associated diffuse pulmonary arteriovenous malformations. Temporary balloon occlusion testing demonstrated hemodynamic suitability for closure. Transcatheter occlusion using a Konar-Multifunctional Occluder resulted in significant improvement in arterial oxygen saturation and normalization of serum ammonia levels, sustained during one-year follow-up. This case highlights the importance of meticulous hemodynamic assessment and demonstrates the safety and efficacy of the Konar-MFO device in late-presenting PDV.
Background: Friedreich’s ataxia (FA) is a hereditary neuromuscular disorder with cardiac involvement as the leading cause of death. This study examines the progression of cardiac magnetic resonance imaging (CMR) biomarkers in FA-associated cardiomyopathy and their relationships with clinical outcomes. Materials and Methods: This retrospective, single-center study included FA patients with at least one CMR. CMR assessment included segmental late gadolinium enhancement (LGE), left ventricle (LV) ejection fraction (EF), LV wall thickness, native T1 mapping, and extracellular volume (ECV) fraction. Linear mixed-effects regression models were used to assess CMR parameters in relation to each other and time. Results: Fifteen patients (mean age: 22.7 ± 7.6 years) and 37 CMRs were evaluated over an average of 11.0 ± 5.0 years from neuromuscular symptom onset. LV thickness was most notable along the septum, while LGE was localized to the LV free wall. Native T1 and ECV were globally elevated. Six (40%) patients demonstrated LGE, and those negative at baseline remained negative. LGE increased by 0.5 segments per year ( P = 0.25), and LVEF declined by 0.73%/year ( P = 0.06); however, neither reached statistical significance. LV thickness, native T1, and ECV did not change significantly. Maximal LV thickness correlated with cardiac symptoms ( P = 0.04) and cardiac medications ( P = 0.024). Conclusions: In this exploratory study, CMR demonstrated patterns of septal hypertrophy, lateral wall fibrosis, and trends toward declining ventricular function. Findings were largely nonsignificant and should be considered hypothesis-generating. Larger, multicenter studies are needed to clarify the role of CMR in disease progression and clinical management.
Background: Pediatric extracorporeal membrane oxygenation (pECMO) provides life-saving cardiopulmonary support for children with severe cardiac or respiratory failure. Identifying prognostic factors may improve risk stratification and clinical decision-making. Methods: We retrospectively reviewed 149 patients (<18 years) who received pECMO at a single center between 2003 and 2025. Patients with multiple extracorporeal membrane oxygenation (ECMO) runs during the same hospitalization were excluded. Demographic, clinical, laboratory, and outcome data were collected. The primary endpoint was 30-day survival. Results: Among 149 patients, the median age was 245 days, and the median weight was 6.3 kg. Indications for ECMO were acute cardiac failure (56%), respiratory failure (37%), and extracorporeal cardiopulmonary resuscitation (ECPR; 11%). Kaplan–Meier analysis demonstrated significant survival differences among groups (log-rank P = 0.010). Mean survival times were 24.07 days (95% confidence interval [CI] 20.72–27.41) for cardiac failure, 28.99 days (95% CI 24.64–33.35) for respiratory failure, and 14.13 days (95% CI 7.72–20.55) for ECPR. In multivariable Cox regression analysis, pre-ECMO lactate (hazard ratio [HR] 1.042, 95% CI 1.008–1.078; P = 0.017) and post-ECMO lactate (HR 1.067, 95% CI 1.024–1.110; P = 0.002) were independent predictors of mortality. Pre- and post-ECMO aspartate aminotransferase and pH were not significantly associated with mortality. Conclusions: Elevated lactate levels before and after ECMO initiation independently predicted mortality in pediatric patients receiving ECMO. Lactate may serve as a useful biomarker for prognostication and risk stratification in this population.
Congenitally corrected transposition of the great arteries (CCTGA) is a rare congenital cardiac malformation, in which the morphologic right ventricle (RV) supports the systemic circulation. Systemic RV hypertrophy is usually secondary to pressure overload, while intrinsic myopathic hypertrophy due to sarcomeric gene mutation is exceedingly uncommon. We report a 37-year-old male who presented with exertional dyspnea and chest discomfort. Echocardiography and cardiac magnetic resonance (CMR) imaging revealed atrioventricular and ventriculoarterial discordance consistent with CCTGA, accompanied by asymmetric hypertrophy of the systemic RV and interventricular septum without significant outflow obstruction. Late gadolinium enhancement demonstrated patchy myocardial fibrosis. Genetic testing identified a heterozygous truncating variant in the TTN gene (exon 46, c. 14414del, p.Thr4805 LysfsTer24), confirming familial hypertrophic cardiomyopathy (HCM). The present case highlights an extremely rare coexistence of CCTGA and TTN-related HCM of the systemic RV. Recognition of this overlap requires high clinical suspicion, multimodal imaging, and molecular testing, which together enable accurate diagnosis, family counseling, and long-term management of this unique phenotype.
Background: Congenital heart disease (CHD) is a leading noninfectious cause of mortality during childhood and adolescence, particularly in developing countries where timely diagnosis and treatment are limited. Despite its public health significance, data on mortality trends and their predictors in resource-limited settings remain scarce. This study aimed to assess mortality trends and identify predictors among children with CHD in a resource-limited setting. Materials and Methods: We conducted a retrospective follow-up study on 6228 children and adolescents with CHD who received care at the Cardiac Center of Ethiopia, either as outpatients or inpatients, with follow-up between 2015 and 2024. Data were collected through medical record reviews and phone interviews with caregivers from January 1 to August 1, 2025. Joinpoint was used to assess trends in CHD-related mortality by calculating the annual percent change (APC), and the average APC (AAPC) was used to evaluate overall mortality trends. Predictors of CHD-related mortality were identified using a Cox proportional hazards model. Results: The median age of patients was 0.7 years (interquartile range, 0.3–3.8 years), with a female-to-male ratio of 1.42:1. During follow-up, 827 patients (13.3%) died. The overall AAPC in mortality per 1000 CHD cases was −8.19% (95% confidence interval [CI]: −11.2–−5.47, P < 0.001), indicating a statistically significant annual decline. A marked decrease occurred between 2019 and 2022 (APC: −40.94%; 95% CI: −47.41–−27.50; P = 0.04). Malnutrition increased mortality risk by 2.9-fold (adjusted hazard ratio [AHR]: 2.9; 95% CI: 1.9–3.9; P < 0.001), pulmonary hypertension (PH) by 3.5-fold (AHR: 3.5; 95% CI: 2.2–6.6; P < 0.001), and the presence of syndromic associations (with or without extracardiac anomalies) by 30% (AHR: 1.3; 95% CI: 1.1–2.2; P = 0.04). Conversely, undergoing surgery or an interventional procedure reduced mortality risk by 80% (AHR: 0.2; 95% CI: 0.1–0.8; P < 0.001). Conclusion: Mortality among children and adolescents with CHD in Ethiopia has shown a significant decline in recent years. However, malnutrition, PH, syndromic associations, and lack of surgical or interventional care remain key predictors of poor outcomes. Strengthening timely access to interventions, enhancing nutritional and multidisciplinary support, and prioritizing early identification of high-risk patients are essential to further reduce CHD-related mortality in resource-limited settings.
Pulmonary hemorrhage may cause persistent airway obstruction due to retained intrapulmonary blood and clot material, resulting in obstructive atelectasis that may be difficult to resolve with conventional airway-clearance strategies. We report the case of a 3-year-old boy with congenital heart disease who developed extensive obstructive atelectasis associated with bronchial cast-like clots after right pulmonary hemorrhage during angioplasty. Chest physiotherapy, postural drainage, prone positioning, and repeated bronchoscopic airway clearance did not improve aeration. Intrapulmonary percussive ventilation (IPV) was introduced after stabilization of airway bleeding as an adjunctive airway-clearance intervention, using low driving pressures with predefined safety criteria and continuous cardiopulmonary monitoring. After IPV initiation, dark blood and bronchial cast-like clots were repeatedly retrieved during bronchoscopic airway-clearance procedures, and radiographic improvement was observed over time. No rebleeding, barotrauma, or clinically meaningful changes in mean arterial pressure, central venous pressure, heart rate, or oxygen saturation were observed during IPV. This case suggests that IPV may have an adjunctive role in the management of obstructive atelectasis caused by retained clot material after pulmonary hemorrhage in a child with congenital heart disease.
Transcatheter device closure is the preferred treatment for secundum atrial septal defect (ASD) in young adults with suitable anatomy. In this population, routine coronary angiography is generally not recommended in the absence of ischemic symptoms or conventional cardiovascular risk factors. However, coronary imaging is selectively performed during ASD intervention to delineate anomalous coronary anatomy at risk of device-related compression, and emerging evidence indicates that clinically significant coronary artery disease may occasionally coexist silently in younger adults. We report the case of a 28-year-old asymptomatic woman undergoing transcatheter closure of a large secundum ASD with deficient rims, in whom coronary angiography performed during invasive catheterization unexpectedly revealed critical left main coronary artery stenosis. Intravascular ultrasound (IVUS) confirmed severe luminal compromise, and successful IVUS-guided left main coronary stenting was performed, followed by device-assisted ASD closure in the same procedural session. Retrospective clinical assessment revealed a history of premature sudden cardiac death in a first-degree relative. This case illustrates the potential for occult yet prognostically significant coronary artery disease in young adults undergoing congenital heart interventions and supports a selective, individualized, and context-driven approach to coronary evaluation, consistent with contemporary adult congenital heart disease guidelines.
Type 0 bicuspid aortic valve (BAV) with mild aortic regurgitation (AR) is generally considered a benign lesion. We report two pediatric cases of type 0 BAV with mild eccentric AR causing a previously undescribed complication: anterior mitral leaflet (AML) aneurysm and perforation through a novel “jet lesion” mechanism. A 13-year-old girl and an 8-year-old boy presented with palpitations and exertional dyspnea. Both had type 0 BAV with posteriorly or inferiorly directed mild eccentric AR. Transthoracic echocardiography identified a localized AML aneurysm with perforation resulting in severe secondary mitral regurgitation (MR). Inflammatory markers and blood cultures were negative, excluding infective endocarditis. Surgical exploration in one case confirmed a circular defect in the AML at the exact site where the AR jet impacted the leaflet. Pericardial patch repair was performed with successful restoration of mitral valve competence at 3-month follow-up. We propose that chronic low-velocity eccentric AR jets striking the AML induce endothelial denudation and localized myxomatous degeneration. Cyclic mechanical stress from regurgitant flow promotes progressive structural weakening, leading to aneurysm formation and eventual perforation with hemodynamically significant secondary MR. This observation challenges the assumption that mild AR in BAV is inconsequential. The temporal clustering of these cases suggests an underrecognized complication warranting heightened surveillance in BAV patients with posteriorly directed AR jets, regardless of AR severity. Systematic evaluation in larger cohorts is needed to clarify the prevalence, risk stratification, and optimal management strategies for this novel jet lesion complication in type 0 BAV disease.
Introduction: Congenital valvular aortic stenosis (AS) represents 3%–6% of congenital heart diseases. This study aimed to compare the outcomes of balloon valvuloplasty (BV) and surgical valvotomy (SV) in patients with AS. Methods: This retrospective study was conducted on 69 patients. A retrospective analysis was done on 69 patients (who underwent BV or SV) at a tertiary heart center in Mashhad, Iran (between 2000 and 2023). Results: The mean age of BV patients ( n = 24, 17 males) was 67.08 ± 55.92 months, while it was 97.44 ± 64.18 months in SV patients ( n = 45, 33 males). Both treatments reduced the pressure gradients without significant differences ( P > 0.05). Aortic valve replacement (AVR) was performed in 20% of SV and 4.1% of BV patients. Over 60% remained intervention-free for at least 5 years. Moderate-to-severe aortic insufficiency developed in 19% of SV and 7% of BV patients. A second-time SV was required in 6.7% and 4.2% of SV and BV cases, respectively. Conclusion: BV and SV showed comparable outcomes, with BV demonstrating shorter hospitalization, fewer complications, and lower AVR rates, though reintervention remained necessary for both.
Objective: This study aims to document the progression of tricuspid regurgitation (TR) following percutaneous patent ductus arteriosus (PDA) closure in preterm neonates weighing <2 kg following an institutional change in procedural technique. Materials and Methods: Before June 1, 2021, the tricuspid valve was crossed with a glide catheter and glide wire. As of June 1, the tricuspid valve was crossed with a diagnostic catheter, microcatheter, and floppy 0.014” wire. This retrospective single-center chart review of the progression of TR in ex-preterm infants weighing <2 kg following percutaneous PDA closure included cases from January 2019 to December 2022. Echocardiograms completed prior to and following the procedure were graded, and a comparison was made between the progression of TR in the old technique group (control) and the new technique group (treatment). Results: There were 58 patients who met the criteria during the study period. Median weight was 1.2 kg in the control group and 1.29 kg in the treatment group. The rate of TR progression was 32% (10/31) in the control group and 7% (2/27) in the treatment group. Both cases in the treatment group were progression from none/trivial to mild TR. Of the 10 cases that demonstrated progression in the control group, 4 progressed from none/trivial to mild and 6 progressed from none/trivial to moderate ( P = 0.026). Conclusions: Despite the small sample size, this change in technique does demonstrate less progression in TR. Further studies are warranted to assess the longitudinal natural history of TR caused by trauma during neonatal duct closure.
Introduction: Total anomalous pulmonary venous drainage (TAPVD) constitutes approximately 1.5% of all congenital heart defects. Surgical correction has traditionally been performed using the conventional technique; however, the sutureless approach has emerged as a recent alternative. This study aims to compare the surgical outcomes of the two techniques and to identify the variables influencing them. Subjects and Methods: This was a retrospective study over a 17-year period from 2007 to 2024. There were 55 patients of TAPVD: supracardiac ( n = 32), intracardiac ( n = 18), infracardiac ( n = 3), and mixed ( n = 2). Results: The median age of surgical intervention was 43 days (interquartile range [IQR]: 30–120), and the median weight was 3.40 kg (IQR: 3.00–4.30). Prematurity was present in 3 (5.5%) patients, 11 (19.6%) had preoperative pulmonary vein obstruction, 2 (3.6%) had atrial septal defect obstruction, and 23 (41.1%) had preoperative pulmonary hypertension. Twelve (21.4%) patients required preoperative intubation, 4 (7.1%) required inhaled nitric oxide, and 7 (12.5%) had hemodynamic instability/cardiopulmonary resuscitation (CPR). Surgical correction (supracardiac and infracardiac) was by conventional repair in 20 patients and sutureless in 15 patients. When comparing sutureless and conventional TAPVD repair techniques, no statistically significant differences were observed in rates of pulmonary hypertension crisis, hospital stay duration, noninvasive ventilation duration, postoperative infections, or chest re-exploration rates. Similarly, the incidence of pulmonary venous obstruction (PVO) and early mortality was comparable between the two groups. The predictors of early mortality were seen in patients with preoperative pulmonary hypertension (odds ratio [OR]: 5.63, P = 0.048), preoperative intubation (OR: 9.29, P = 0.008), and preoperative CPR (OR: 36.67, P ≤ 0.001). Incidence of postoperative low cardiac output syndrome was strongly associated with preoperative pulmonary hypertension (OR: 3.90, P = 0.02), while predictors of postoperative extracorporeal membrane oxygenation predominant in patients with preoperative PVO (OR: 24.57, P = 0.007), associated pulmonary abnormality (OR: 4.57, P = 0.031), and preoperative intubation (OR: 3.88, P = 0.05). Conclusions: Early postoperative outcomes were found to be closely associated with the patients’ preoperative clinical status. Overall, in our cohort, no difference was seen between the conventional and sutureless technique of TAPVD repair. These findings may be influenced by the study’s limited sample size, potentially reducing its statistical power.
